Associated Papers
Spectrum of PAH gene variants in Jordanian patients with phenylalanine hydroxylase deficiency.
Fathallah R et al.
Biomedical Reports, 2025
Variations in genotype-phenotype correlations in phenylalanine hydroxylase deficiency in Chinese Han population.
Zhu T et al.
Gene, 2013
Protein stability and in vivo concentration of missense mutations in phenylalanine hydroxylase.
Shi Z et al.
Proteins, 2012
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeIII
Structural interpretation of mutations in phenylalanine hydroxylase protein aids in identifying genotype-phenotype correlations in phenylketonuria.
Jennings IG et al.
European Journal of Human Genetics : Ejhg, 2000
The structural basis of the recognition of phenylalanine and pterin cofactors by phenylalanine hydroxylase: implications for the catalytic mechanism.
Teigen K et al.
Journal of Molecular Biology, 1999
Partial characterization and three-dimensional-structural localization of eight mutations in exon 7 of the human phenylalanine hydroxylase gene associated with phenylketonuria.
Bjørgo E et al.
European Journal of Biochemistry, 1998
PAH Mutation Analysis Consortium Database: 1997. Prototype for relational locus-specific mutation databases.
Nowacki PM et al.
Nucleic Acids Research, 1998
In vitro expression analysis of mutations in phenylalanine hydroxylase: linking genotype to phenotype and structure to function.
Waters PJ et al.
Human Mutation, 1998
Mutation spectrum and phenylalanine hydroxylase RFLP/VNTR background in 44 Romanian phenylketonuric alleles.
Popescu T et al.
Human Mutation, 1998
Origins of hyperphenylalaninemia in Israel.
Kleiman S et al.
European Journal of Human Genetics : Ejhg, 1994
Identical SRY mutations with different phenotypic effects.
Mittwoch U
American Journal of Human Genetics, 1993
Inactivation of phenylalanine hydroxylase by a missense mutation, R270S, in a Palestinian kinship with phenylketonuria.
Kleiman S et al.
Human Molecular Genetics, 1993
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